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1.
Pediatr Blood Cancer ; 66(6): e27641, 2019 06.
Article in English | MEDLINE | ID: mdl-30746839

ABSTRACT

OBJECTIVES: According to the Renal Tumor Study Group (RTSG) of the International Society of Paediatric Oncology (SIOP), diagnostic biopsy of renal tumors prior to neoadjuvant chemotherapy is not mandatory unless the presentation is atypical for a Wilms tumor (WT). This study addresses the relevance of this strategy as well as the accuracy and safety of image-guided needle biopsy. METHODS: Clinical, radiological, and pathological data from 317 children (141 males/176 females, mean age: 4 years, range, 0-17.6) consecutively treated in one SIOP-affiliated institution were retrospectively analyzed. RESULTS: Presumptive chemotherapy for WT was decided for 182 patients (57% of the cohort), 24 (8%) were operated upfront, and 111 (35%) were biopsied at diagnosis. A non-WT was confirmed after surgery in 5/182 (3%), 11/24 (46%), and 28/111 (25%), respectively. Age at diagnosis was the most commonly (46%) used criterion to go for biopsy but a nine-year threshold should be retrospectively considered more relevant. Tumor volumes of clear cell sarcoma of the kidney and WT were significantly higher than those of other tumors (P = 0.002). The agreement between core-needle biopsy (CNB) and final histology was 99%. No significant morbidity was associated with CNB. CONCLUSION: The use of SIOP criteria to identify patients eligible for presumptive WT neoadjuvant chemotherapy or upfront surgery avoided biopsy in 65% of children and led to a 97% rate of appropriate preoperative chemotherapy. Image-guided CNB is a safe and accurate diagnostic procedure. The relevance of SIOP biopsy criteria might be improved by using an older age threshold (9 years instead of 6 years) and by adding initial tumor volume.


Subject(s)
Carcinoma, Renal Cell/diagnosis , Guidelines as Topic , Kidney Neoplasms/diagnosis , Patient Selection , Wilms Tumor/diagnosis , Adolescent , Biopsy , Carcinoma, Renal Cell/surgery , Child , Child, Preschool , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Kidney Neoplasms/surgery , Male , Neoadjuvant Therapy , Neoplasm Staging , Prognosis , ROC Curve , Retrospective Studies , Wilms Tumor/surgery
2.
Arch Pediatr ; 24(10): 1000-1004, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28927774

ABSTRACT

BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12.2], and POLR1C [6p21.1]) genes, which are responsible for increased neuroepithelial apoptosis during embryogenesis resulting in the lack of neural crest cells involved in facial bone and cartilage formation. Altered function of the upper digestive tract has been reported, whereas severe dysmotility disorders have never been reported. We describe here the first case of TCS associated with histologically proven chronic intestinal pseudo-obstruction (CIPO) in humans. Case presentatios A 12-year-old boy with TCS due to TCOF1 gene deletion experienced nutritional difficulties and digestive intolerance from birth. CIPO was suspected during childhood because of severe intestinal dysmotility leading to enteral-jejunal nutrition intolerance and dependence on total parenteral nutrition. Diagnosis of CIPO with nervous abnormalities was histologically confirmed on a surgical rectal biopsy that showed enlarged ganglionic myenteric plexus. At the age of 9 years, an isolated colonic stenosis without dilatation responsible for severe abdominal pain and altered quality of life led to digestive derivation contributing to rapid disappearance of chronic abdominal pain. At the age of 12 years, the patient was still dependent on total home parenteral nutrition 7 days a week to maintain regular growth velocity. CONCLUSION: Recently, mice studies have pointed out the role played by TCOF1 in ganglionic cell migration in the foregut, suggesting that the synergistic haploinsufficiency of Tcof1 and Pax3, a transcription factor regulating the RET gene involved in disorders of neural crest cell development, probably results in colonic aganglionosis and may explain the association described here between TCS and CIPO. This case may correspond to this possible mechanism in humans. These findings and our clinical report suggest that CIPO may be assessed as unusual digestive manifestations in TCS with TCOF1 deletion.


Subject(s)
Intestinal Pseudo-Obstruction/etiology , Mandibulofacial Dysostosis/complications , Child , Chronic Disease , Humans , Male
3.
Arch Pediatr ; 23(11): 1157-1160, 2016 Nov.
Article in French | MEDLINE | ID: mdl-27692549

ABSTRACT

INTRODUCTION: Meckel's diverticulum is a common malformation in children, usually asymptomatic, with complications in only 20% of cases. Exceptionally, a tumor can develop in Meckel's diverticulum in children, particularly Burkitt's lymphoma; in adults it can develop into a gastrointestinal stromal tumor, a leiomyosarcoma, or a neuroendocrine tumor such as a carcinoid tumor. The diagnosis of inflammatory pseudotumor following an insidious perforation is rare. OBSERVATION: We report the case of a 14-month-old boy who presented with fever, asthenia, food refusal, and digestive complaints such as vomiting and tender abdomen suggesting appendicitis. Computed tomography showed an ileal mass of 3cm in diameter, which led to the suspicion of Burkitt's lymphoma. Laparoscopy showed Meckel's diverticulum with a mass of 3×2.8×2cm. Histological examination confirmed the diagnosis of Meckel's diverticulum with gastric heterotopia and showed a proliferation of spindle cells in a myxoid background, with an inflammatory infiltrate made of lymphocytes and plasmocytes. Immunostaining ruled out a malignant tumor. The diagnosis of an inflammatory pseudotumor developing on a Meckel diverticulum with gastric heterotopias was made. The outcome was favorable after surgical resection. CONCLUSION: While perforation of a Meckel diverticulum with gastric heterotopia is a common finding, the discovery of an inflammatory pseudotumor following a perforation is rare; the differential diagnosis should include Burkitt's lymphoma.


Subject(s)
Granuloma, Plasma Cell/pathology , Ileal Diseases/pathology , Meckel Diverticulum/diagnosis , Humans , Infant , Male
4.
Sarcoidosis Vasc Diffuse Lung Dis ; 30(2): 149-52, 2013 Aug 01.
Article in English | MEDLINE | ID: mdl-24071888

ABSTRACT

Clinical presentation of sarcoidosis in children is very variable and dependant upon age. Herein, we report the first association of massive splenomegaly and pancytopenia as the revealing mode of sarcoidosis in an 8-year-old girl who, despite bone marrow involvement, had a remarkable good outcome following steroid therapy.


Subject(s)
Pancytopenia , Splenomegaly , Child , Humans , Sarcoidosis
5.
Arch Pediatr ; 17(11): 1562-5, 2010 Nov.
Article in French | MEDLINE | ID: mdl-20880679

ABSTRACT

Minor salmonellosis is due to Gram-negative bacilli, which usually cause enterocolitis with potentially severe complications. We report on a case of a clinically uncommon presentation of Salmonella enterica serovar typhimurium infection in an 8-year-old child who presented with acute abdominal pain. We discuss clinically uncommon presentations of salmonella disease in children, as well as its pathology and radiology.


Subject(s)
Abscess/diagnosis , Abscess/microbiology , Cecum , Salmonella Infections/complications , Salmonella Infections/diagnosis , Salmonella typhi/isolation & purification , Abdominal Pain/microbiology , Abscess/therapy , Anti-Bacterial Agents/therapeutic use , Biopsy , Child , Diagnosis, Differential , Female , Humans , Retroperitoneal Neoplasms/diagnosis , Retroperitoneal Space , Salmonella Infections/therapy , Treatment Outcome
6.
Pediatr Pulmonol ; 45(10): 1021-9, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20658481

ABSTRACT

AIM OF THE STUDY: Determine high-resolution tomography (HRCT) scan characteristics in children with SFTPC mutation and correlate them to histological findings. PATIENTS AND METHODS: This retrospective multicenter study included 15 children (7 females and 8 males) with SFTPC mutations. HRCT scans have been performed in all the children and lung biopsies in 8 children. RESULTS: From all signs assessed on initial HRCT scans, ground-glass opacities (n =14, 93%) and lung cysts (n = 6, 40%) were predominant. Interlobular septal thickening (n = 1, 7%), air space consolidation (n = 1, 7%), paraseptal emphysema (n = 2, 13%), and pulmonary nodules (n = 1, 7%) were also found. Histological analysis revealed accumulation of macrophages in the alveolar lumen, type II pneumocyte hyperplasia, and alveolar septal thickening. Dilatation of the respiratory bronchiole and alveolar duct associated with muscular hyperplasia were also described. Interestingly, lung cysts on HRCT scans were associated with dilatation of terminal bronchioli and alveolar duct in lung biopsies. CONCLUSION: In children with SFTPC mutations, HRCT scan finding was highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing.


Subject(s)
Lung Diseases, Interstitial/genetics , Lung Diseases, Interstitial/pathology , Mutation , Pulmonary Surfactant-Associated Protein C/genetics , Female , Humans , Infant , Infant, Newborn , Lung Diseases, Interstitial/diagnostic imaging , Male , Retrospective Studies , Tomography, X-Ray Computed/methods
7.
J Infect ; 61(2): 185-8, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20361998

ABSTRACT

A 26-year-old woman was HIV-1 diagnosed at 11 weeks of pregnancy (CD4 = 7/mm(3), HIV-1 RNA = 108,000 copies/mL) with immunity against toxoplasmosis (Toxoplasma IgG = 1800 UI/mL). A fetal death was diagnosed 7 weeks after starting HAART (CD4 = 185/mm(3), HIV-1 RNA = 391 copies/mL) with a positive Toxoplasma PCR on fetal tissues and amniotic fluid. The absence of severe toxoplasmic foetopathy, the very exaggerated and atypical placental inflammation and the immune restoration context led to the diagnosis of placental IRIS associated with Toxoplasma gondii reactivation. This outcome remains undescribed and could represent an issue in resource-limited settings where HIV-pregnant patients are often severely immunodeficient and infected with opportunistic pathogens.


Subject(s)
Anti-HIV Agents/therapeutic use , Fetal Death , HIV Infections/complications , Immune Reconstitution Inflammatory Syndrome/diagnosis , Pregnancy Complications, Infectious/drug therapy , Toxoplasmosis/complications , Toxoplasmosis/diagnosis , Adult , Amniotic Fluid/parasitology , Anti-HIV Agents/adverse effects , Antiretroviral Therapy, Highly Active/adverse effects , CD4 Lymphocyte Count , DNA, Protozoan/isolation & purification , Female , HIV Infections/drug therapy , HIV Infections/virology , HIV-1/isolation & purification , Humans , Immune Reconstitution Inflammatory Syndrome/complications , Placenta/pathology , Pregnancy , RNA, Viral/blood , Toxoplasma/isolation & purification , Toxoplasmosis/parasitology , Viral Load
8.
Ultrasound Obstet Gynecol ; 28(2): 229-31, 2006 Aug.
Article in English | MEDLINE | ID: mdl-16933282

ABSTRACT

A peculiar subtype of holoprosencephaly, middle interhemispheric variant (MIH), which is characterized by a partial posterior interhemispheric fusion of the brain, has been described in children. We describe the features of a case of a possible new MIH at 26 weeks of gestation, diagnosed using prenatal sonography and magnetic resonance imaging and confirmed by postmortem examination. This malformation of the brain was associated with an unusual appearance of the corpus callosum and rare chromosomal abnormality: a 45X/46,XX/47,XX,+ 18 mosaicism.


Subject(s)
Holoprosencephaly/diagnosis , Prenatal Diagnosis/methods , Abortion, Induced , Agenesis of Corpus Callosum , Chromosomes, Human, Pair 18/genetics , Female , Holoprosencephaly/classification , Holoprosencephaly/genetics , Humans , Magnetic Resonance Imaging , Mosaicism , Pregnancy , Sex Chromosome Aberrations , Ultrasonography, Prenatal
9.
Am J Med Genet A ; 139A(2): 118-22, 2005 Dec 01.
Article in English | MEDLINE | ID: mdl-16278887

ABSTRACT

We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on the 12-week-ultrasound examination. During the second trimester, fetal hydrops developed in the first pregnancy whereas fetal akinesia appeared in the second pregnancy. The diagnosis was suggested by microscopic examination of fetal tissues showing characteristic inclusions exclusively in striated fibers, then confirmed by enzymatic studies on frozen muscle. Antenatal diagnosis was performed on the third and fourth pregnancies: cervical cystic hygroma and low glycogen branching enzyme (GBE) activity on chorionic villi sample (CVS) were detected in the third pregnancy whereas ultrasound findings were normal and GBE activity within normal range on CVS in the fourth pregnancy. Molecular analysis showed that the mother was heterozygous for a c.1471G > C mutation in exon 12, leading to the replacement of an alanine by a tyrosine at codon 491 (p.A491T); the father was heterozygous for a c.895G > T mutation in exon 7, leading to the creation of a stop codon at position 299 (p.G299X). GSD IV has to be considered in a context of cervical cystic hygroma with normal karyotype, particularly when second trimester hydrops or akinesia develop. Enzymatic analysis of GBE must be performed on CVS or amniotic cells to confirm the diagnosis. Characteristic intracellular inclusions are specific to the disease and should be recognized, even in macerated tissues after fetal death. Genetic analysis of the GBE gene may help to shed some light on the puzzling diversity of GSD IV phenotypes.


Subject(s)
Fetal Diseases/physiopathology , Glycogen Storage Disease Type IV/physiopathology , Adult , Female , Fetal Death , Fetal Diseases/enzymology , Fetal Diseases/genetics , Glycogen Storage Disease Type IV/enzymology , Glycogen Storage Disease Type IV/genetics , Humans , Male , Pregnancy
10.
J Gynecol Obstet Biol Reprod (Paris) ; 34(1 Suppl): S89-96, 2005 Feb.
Article in French | MEDLINE | ID: mdl-15767938

ABSTRACT

OBJECTIVES: Increased physiological nuchal translucency (NT) between 10 and 14 weeks of gestation is associated with chromosomal anomalies, mainly trisomy 21, developmental malformations and with normal fetus outcome. The aim of this study is to understand the cellular mechanisms leading to increased NT. MATERIALS AND METHODS: We examined five nuchal samples, a normal fetus from a fetal loss with a normal NT, a trisomy 21 fetus with an increased NT, two karyotypically normal fetuses with increased NT and a fetus with increased NT associated with an isolated cardiopathy. These morphological data were correlated with data from the literature. RESULTS: The pathological mechanism of increased NT is a posterior median mesenchymal edema of the fetal neck. It is associated with bilateral distension of jugular lymphatic vessels. CONCLUSION: Increased NT mechanisms are mainly related to a disturbance of embryonic lymphangiogenesis which might be a common denominator of the alteration of the composition of the extracellular matrix and of the cardiovascular and hemodynamic disorder. Nuchal morphological studies should be systematically performed to understand the mechanisms of increased NT.


Subject(s)
Fetus/pathology , Neck/diagnostic imaging , Neck/pathology , Ultrasonography, Prenatal , Cadaver , Female , Humans , Neck/physiopathology , Pregnancy , Retrospective Studies
12.
Prenat Diagn ; 21(8): 613-8, 2001 Aug.
Article in English | MEDLINE | ID: mdl-11536256

ABSTRACT

Cytogenetic studies of spontaneous abortions or intrauterine fetal death depend on conventional tissue culturing and karyotyping. This technique has limitations such as culture failure and selective growth of maternal cells. Fluorescent in situ hybridization (FISH) using specific probes permits diagnosis of aneuploidies but is limited to one or a few chromosomal regions. Comparative genomic hybridization (CGH) provides an overview of chromosomal gains and losses in a single hybridization directly from DNA samples. In a prospective study, we analyzed by CGH trophoblast cells from 21 fetuses in cases of spontaneous abortions, intrauterine fetal death or polymalformed syndrome. Six numerical chromosomal abnormalities including one trisomy 7, one trisomy 10, three trisomies 18, one trisomy 21 and one monosomy X have been correctly identified by CGH. One structural abnormality of the long arm of chromosome 1 has been characterized by CGH. One triploidy and two balanced pericentromeric inversions of chromosome 9 have not been identified by CGH. Sexual chromosomal constitutions were concordant by both classical cytogenetic technique and CGH. Contribution of trophoblast analysis by CGH in embryo-fetal development anomalies is discussed.


Subject(s)
Chromosome Aberrations/genetics , Fetus/abnormalities , Trophoblasts/cytology , Abortion, Spontaneous/genetics , Cytogenetics/methods , Female , Fetal Death/genetics , Humans , In Situ Hybridization, Fluorescence/standards , Predictive Value of Tests , Pregnancy , Prenatal Diagnosis/standards , Prospective Studies
13.
AIDS Res Hum Retroviruses ; 14(9): 775-83, 1998 Jun 10.
Article in English | MEDLINE | ID: mdl-9643377

ABSTRACT

Increase Th2 cytokine production may contribute to some clinical manifestations of HIV infection, and studies have suggested that IL-13 rather than IL-4 is involved in these conditions. We directly tested this hypothesis by administrating IL-13 to SIV-infected macaques. SIV-infected rhesus macaques received a daily subcutaneous injection for 21 days of either IL-13 (10 microg/kg/day) or a placebo. The four macaques treated with IL-13 experienced body weight loss (9.95 +/- 0.71%) related to intestinal tract damage: they all suffered from a complete atrophy of duodenal villi. This was presumably due to premature epithelial cell death: proliferating Ki67+ cells in glandular crypts were as numerous as in control animals, but many epithelial cells developed apoptosis. The duodenal mucosa was infiltrated with cells expressing CD56 and PEN5, two markers of NK cells, and there was a deregulation of local cytokine and chemokine production characterized by a decrease in IL-10 gene expression (25% of controls) and an increase in gene expression for IFN-gamma (4-fold control), MIP-1alpha (8-fold control), and MIP-1beta (13-fold control). Thus, IL-13 can induce digestive epithelial cell injury in vivo in primates infected with a retrovirus. Therefore, its role should be considered in digestive manifestations of HIV infection as well as in other disorders associated with intestinal epithelial atrophy.


Subject(s)
Duodenum/pathology , Interleukin-13/administration & dosage , Intestinal Mucosa/pathology , Simian Acquired Immunodeficiency Syndrome/pathology , Animals , Apoptosis , Atrophy , Body Weight , Chemokines/genetics , Cytokines/genetics , Duodenum/immunology , Duodenum/metabolism , Female , Gene Expression , Immunohistochemistry , Interferon-gamma/pharmacology , Interleukin-13/physiology , Intestinal Mucosa/immunology , Intestinal Mucosa/metabolism , Lymphoid Tissue/immunology , Macaca mulatta , Male , RNA, Messenger/biosynthesis , Simian Acquired Immunodeficiency Syndrome/immunology , Tumor Necrosis Factor-alpha/pharmacology
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